Disease cell characterization

Human chronic inflammatory diseases are characterized by populations of cells with altered regulation and function. A large body of evidence suggests that many of these cellular abnormalities may be linked to an increase in the production of free radicals and/or deficiencies of antioxidant defence systems. Oxygen free radicals attack cell structures, altering their function, and are cytotoxic. They have therefore been implicated in the pathogenesis of rheumatoid arthritis as well as many other human diseases (HaUiwell, 1991). 

Low levels or absence of adenosine deaminase (ADA) is associated with one form of severe combined immunodeficiency disease (SCID) characterized by B-andT-lymphocyte dysfunction due to toxic effects of deoxyadenosine (HI9). Most patients present as infants with failure to thrive, repeated infections, severe lymphopenia, and defective cellular and humoral immunity. Disease severity is correlated with the degree of deoxyadenosine nucleotide pool expansion and inactivation of S-adenosylhomocysteine hydrolase in red blood cells. Up to now, more than 40 mutations have been identified (A4, H20, S5, S6). The majority of the basic molecular defects underlying ADA deficiency of all clinical phenotypes are missense mutations. Nonsense mutations, deletions ranging from very large to single nucleotides, and splicing mutations have also been reported. It is likely that severe... 

Many diseases are characterized by the expression of specific proteins1 in some cases, malignant cells yield unique protein profiles when total cellular protein extracts are analyzed by proteomic methods such as two-dimensional gel electrophoresis or matrix-assisted laser desorption ionization-mass spectrometry (MALDI-MS).2 High-throughput proteomic studies may be useful to differentiate normal cells from cancer cells, to identify and define the use of biomarkers for specific cancers, and to characterize the clinical course of disease. Proteomics can also be used to isolate and characterize potential drug targets and to evaluate the efficacy of treatments. 

IFN-y may also prove valuable in treating a variety of other conditions, and clinical trials for various indications are currently underway. This cytokine shows promise in treating leishmaniasis, a disease common in tropical and subtropical regions. The causative agent is a parasitic protozoan of the genus Leishmania. The disease is characterized by the presence of these protozoa inside certain immune cells, particularly macrophages. IFN-y appears to stimulate the infected macrophage to produce nitric oxide, which is toxic for the parasite. 

Alzheimer s Disease This disease is due to the accumulation of j8-amyloid protein in the brain. The protein is believed to trigger brain degeneration through cell death of the neurons. Alzheimer s disease is characterized by loss of memory and intellectual performance, and slowness in thought. In the United States, a class of drugs called cholinesterase inhibitors is approved to treat Alzheimer s disease. Both Europe and the United States have approved a drug called memantine for treatment of Alzheimer s disease. 

Bmmmendorf TH, Balabanov S. Telomere length d3mamics in normal hematopoiesis and in disease states characterized by increased stem cell turnover. Leukemia 2006 20 1706-1716. 

Some mental disorders also appear to result from disruption of the natural flow of neurotransmitters between neurons. For example, scientists now believe that the disorder known as Parkinson s disease may result from a deficiency of the neurotransmitter dopamine. Parkinson s disease is characterized by muscular rigidity, tremor while the person is at rest, difficulty in initiating movement (a condition known as hradykinesia), slowness of voluntary movement, difficulty with balance, and difficulty with walking. When the neuronal cells that produce dopamine begin to deteriorate, they release less of the neurotransmitter the normal flow of dopamine between cells is reduced and disruptions of normal nerve patterns develop, as evidenced by the symptoms described. 

The disease is characterized by peripheral insulin resistance leading initiaiiy to increased secretion of insulin by the pancreatic beta cells. 

Cancer is a disease of cells characterized by a shift in the control mechanism which govern cell proliferation and differentiation and the anticancer agents either kill cancer... 

As demonstrated with "Cu in rats, (Cu,Zn)-SOD receives its copper from ceruloplasmin after 2-3 days The (Cu,Zn)-SOD activity in erythrocytes is reduced in Cu deficiency, as shown with several species With rats e.g. during Cu depletion, plasma Cu and ceruloplasmin were decreased by 78 and 75% respectively against 72 % and only 56 % for the blood cell Cu and (Cu,Zn)-SOD respectively In three patients with Wilson s disease the SOD level of erythrocytes was normal, although the disease is characterized by an accumulation of Cu in the liver e.g. and usually by low concentrations and sometimes the absence of ceruloplasmin... 

Persons with type 1 diabetes constitute approximately ten percent of the diabetics in the United States. The disease is characterized by an absolute deficiency of insulin caused by an autoimmune attack on the 3 cells of the pancreas. This destruction requires a stimulus from the environment (such as a viral infection) and a genetic determinant that allows the P cell to be recognized as "non-self."... 

Histologically, the disease is characterized by a loss of adhesion between suprabasal keratinocytes (acantholysis) and abnormal keratinisation (dyskeratosis) of the epidermis. In HHD, acantholysis is the most prominent histological feature while in the clinically related Darier disease (OMIM 124200), dyskeratosis is much more apparent. Ultrastructural analysis of acantholytic cells reveals perinuclear aggregates of keratin filaments that have retracted from desmosomes (Harada et al., 1994 Hashimoto et al., 1995 Metze et al., 1996). 

---